ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.423-862C>T

dbSNP: rs1597575641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000985199 SCV001426498 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985199 SCV001133224 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2019-09-26 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.